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Therapy is Littleton girl's only glimmer of hope to keep her eyesight

By Hiroko Sato, hsato@lowellsun.com

Updated:
03/08/2013 03:07:36 PM EST

Finley Pletcher, 6, pictured with parents Mathew and Jennifer, has a retinal disorder that may eventually lead to blindness. The family is holding a benefit in June for gene therapy to benefit Finley and others afflicted with the rare condition. Sun/Bob Whitaker

LITTLETON -- Jennifer Pletcher remembers looking straight up and waving at her 2 1/2-year-old daughter, Finley, standing atop the narrow staircase in their Connecticut home more than four years ago.

The normally bubbly toddler stood there, still.

Finley had no idea that her mother was gesturing to her, Pletcher said.

Pletcher and her husband, Mathew, would then begin taking Finley to one eye doctor's office after another before receiving a grim diagnosis: Leber congenital amaurosis, or LCA. The inherited retinal disorder slowly steals a child's eyesight. With no treatment available, Finley, now 6 and legally blind, will likely lose most, if not all, of her sight by her early teenage years.

As devastating as the prognosis may sound, there is a glimmer of hope, Mathew Pletcher said. It comes from the success of clinical trials on REP 65 gene therapy. Pletcher has seen a video of a young blind boy who had been injected with the REP 65 gene, which mutates into a form of LCA. Three months later, the boy walked on his own through an obstacle course set up in a hospital room.

"This is probably our best chance for being able to save the vision," Pletcher said of gene therapies for LCA.

Now, the race is on to raise funds to make a similar gene therapy available for Finley, a first-grader at Shaker Lane Elementary School, and others who carry the mutated RDH12 gene which causes another form of LCA.

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A Finley's Fighters 5K Race and Picnic is scheduled for Saturday, June 15, on the Bruce Freeman Rail Trail in Chelmsford. This will be the fourth walk and run for the Pletcher family, who began the initiative while living in their former hometown, Connellsville, Pa.

About 2 1/2 years ago, the Pletchers and 15 other families who have children suffering from RDH12 LCA formed RDH12 Fund for Sight. The proceeds from Finley's Fighters 5K race will add to the fund.

RDH12 Fund for Sight, a South Carolina-based nonprofit organization, has raised $900,000. The money has helped researchers at the University of Pennsylvania and the University of Michigan to successfully develop a gene therapy for RDH12 LCA.

The next step is a drug-toxicity test. A a clinical trial is estimated to cost $2 million. The Pletchers hope the RDH12 Fund for Sight will raise $1 million to help move the process forward.

LCA refers to inherited early-onset retina degeneration, according to Eric Pierce, an opthalmologist and director of Ocular Genomics Institute at Massachusetts Eye and Ear Infirmary, who treats Finley. If an eye were to be compared to a camera, the retina would be the film. Pierce said mutated genes cause the "film" to dysfunction, resulting in poor vision in infants born with the disorder. The disorder expands over time to rob most, if not all, of a patient's vision.

Mutated genes result in 18 different types of LCA. The RDH12 gene accounts for an estimated 1 percent to 5 percent of LCA cases, afflicting up to 10,000 people worldwide, Pierce said.

RDH12 Fund for Sight estimates 85 people in the United States suffer from RDH12 LCA, including 18 children in the families who founded the organization, the Pletchers said.

Detecting the disorder

Finley's parents knew something was wrong with Finley not long after she was born because she behaved differently from her two older siblings. Jennifer Pletcher, who currently works as a substitute nurse for the Littleton Public Schools, said Finley bumped into things and acted "overly clumsy." Their relatives would say Finley didn't look directly at them. The eyes of infants with LCA often wobble back and forth because they try to see things better, Pierce said.

Pediatricians who treated Finley's symptoms felt they were nothing unusual and that she needed eyeglasses. But the symptoms grew worse. Eventually, a retina specialist at Children's Hospital in Boston figured out Finley carried a mutated RDH12 gene. But it took nine months to confirm the diagnosis through blood sample analysis at the John and Marcia Carver Nonprofit Genetic Testing Laboratory at the University of Iowa.

"We were shocked," Jennifer Pletcher said of the lab results.

"That's when it hit us," Mathew Pletcher said of the idea of his daughter possibly living blind. He asked himself: "What does it mean to exist in the world without vision?"

Of all patients who participated in the REP 65 gene-therapy clinical trial, children's vision showed more improvement than those of adults, according to Pierce, who participated in the trial as an investigator in 2008 while working at the University of Pennsylvania and Children's Hospital in Philadelphia.

"We predict that you have to have some light-sensitive cells remaining in order to benefit from gene therapy," Pierce said.

Researchers are also working on a stem-cell therapy for retina regeneration, according to Pierce.

Mathew Pletcher, who works in the Rare Disease Unit of Pfizer as a geneticist, said he feels fortunate that Finley has time to prepare for a life without vision. Finley, who loves to draw, has been learning how to use braille and a white cane in school. And, the family vows to do whatever it takes in the meantime to help move forward the development of the gene therapies.

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